Canonical Allele Identifier: CA10586241

Gene: DYNC2LI1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43800845C>T , CM000664.2:g.43800845C>T	GRCh38
NC_000002.11:g.44027984C>T , CM000664.1:g.44027984C>T	GRCh37
NC_000002.10:g.43881488C>T	NCBI36
NG_053008.1:g.31807C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016008.4:c.659C>T MANE Select	NP_057092.2:p.Thr220Ile
ENST00000260605.12:c.659C>T MANE Select	ENSP00000260605.8:p.Thr220Ile
NM_001193464.1:c.662C>T	NP_001180393.1:p.Thr221Ile
NM_001193464.2:c.662C>T	NP_001180393.1:p.Thr221Ile
NM_001348912.1:c.659C>T	NP_001335841.1:p.Thr220Ile
NM_001348912.2:c.659C>T	NP_001335841.1:p.Thr220Ile
NM_001348913.1:c.662C>T	NP_001335842.1:p.Thr221Ile
NM_001348913.2:c.662C>T	NP_001335842.1:p.Thr221Ile
NM_016008.3:c.659C>T	NP_057092.2:p.Thr220Ile
ENST00000378587.3:c.610C>T
ENST00000489222.6:n.615C>T
ENST00000605786.5:c.662C>T	ENSP00000474032.1:p.Thr221Ile
XM_005264364.3:c.662C>T	XP_005264421.1:p.Thr221Ile
XM_005264365.3:c.659C>T	XP_005264422.1:p.Thr220Ile